ArticleNature medicine2020
The effect of LRRK2 loss-of-function variants in humans.
Erratum issuedOpen access · hybridAbstract read
In one paragraph
Article in Nature medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 73 papers.
0numbers the graph read from it
0cells of the map it votes in
73citing papers in PubMed
7.2field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
73 citing papers in PubMed, 109 citations in OpenAlex.
- Leucine-rich repeat kinase 2 (LRRK2): balancing cellular homeostasis and Parkinson's disease (PD) pathogenesis.Annals of medicine · 2026Review
- Clinical and genetic findings in Parkinson's disease in a Turkish cohort: a retrospective exome sequencing study.Neurogenetics · 2026Article
- LRRK2: Molecular Mechanisms in Parkinson's Disease.International journal of molecular sciences · 2026Review
- Article
- Transcript-aware rare genetic variant association analyses of cardiopulmonary traits in participants from the All of Us Research Program.Nature communications · 2026Article
- Strategies for Optimizing Genetic Mouse Models to Enhance the Understanding of Parkinson's Disease.Biomedicines · 2026Review
- Pathological Protein Targets in Parkinson's Disease: Progress Towards the Development of Disease-Modifying Therapies.CNS drugs · 2026Review
- Role of LRRK2 in physiological activities, diseases, and therapy.Chinese medical journal · 2026Review
- Advancing Development of LRRK2-Targeted Therapeutics for Parkinson's Disease: Conference Proceedings and Roadmap for Research.Rand health quarterly · 2026Article
- LRRK2 as a Potential Disease-Modifying Target in Sporadic Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Mitochondrial resilience: a convergent framework for pathogenesis and neuroprotection in Parkinson's disease.Frontiers in pharmacology · 2026Review
- LRRK2 mediates haloperidol-induced changes in indirect pathway striatal projection neurons.Molecular psychiatry · 2025Article
- Toward Personalized Medicine in Parkinson's Disease: A Scoping Review of Biomarkers, Genetics, and Treatment Stratification.Journal of clinical practice and research · 2025Review
- Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Progress in Disease-Modifying Therapies for Parkinson's Disease.Aging and disease · 2025Review
- Multi-dimensional annotation of porcine variants using genomic and epigenomic features in pigs.BMC biology · 2025Article
- Neurodegeneration models in Parkinson's disease: cellular and molecular paths to neuron death.Behavioral and brain functions : BBF · 2025Review
- Affective phenotypes in heterozygousFrontiers in genetics · 2025Article
- Roles of LRRK2 and its orthologs in protecting against neurodegeneration and neurodevelopmental defects.Frontiers in cell and developmental biology · 2025Article
- LRRK2 in Parkinson's disease: upstream regulation and therapeutic targeting.Trends in molecular medicine · 2024Review
13 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
- Erratum issued
Authors and funding
40 authors at 20 institutions in 18 countries.
Nicola Whiffin *National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK. n.whiffin@imperial.ac.uk.ORCID http://orcid.org/0000-0003-1554-6594
Irina M Armean *Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1043-4756
Aaron Kleinman *23andMe, Inc., Sunnyvale, CA, USA.
Jamie L MarshallProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2364-391X
Eric V MinikelProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Julia K GoodrichProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nicholas M QuaifeNational Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.ORCID http://orcid.org/0000-0003-2755-2086
Joanne B ColeProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9520-2788
Qingbo WangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-9110-5830
Konrad J KarczewskiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2878-4671
Beryl B CummingsProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6346-1646
Laurent FrancioliProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-3039-8895
Kristen LaricchiaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Anna Guan23andMe, Inc., Sunnyvale, CA, USA.
Babak Alipanahi23andMe, Inc., Sunnyvale, CA, USA.ORCID http://orcid.org/0000-0001-8216-7178
Peter Morrison23andMe, Inc., Sunnyvale, CA, USA.
Marco A S BaptistaMichael J. Fox Foundation, New York, NY, USA.
Kalpana M MerchantMichael J. Fox Foundation, New York, NY, USA.
Genome Aggregation Database Production Team
Genome Aggregation Database Consortium
James S WareNational Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-6110-5880
Aki S HavulinnaNational Institute for Health and Welfare, Helsinki, Finland.ORCID http://orcid.org/0000-0002-4787-8959
Bozenna IliadouDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jung-Jin LeeDepartment of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Girish N NadkarniThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Cole WhitemanDepartment of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, NY, USA.
23andMe Research Team
Mark DalyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tõnu EskoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1982-6569
Christina HultmanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-8532-5087
Lili MilaniEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-5323-3102
Aarno PalotieAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Carlos PatoDepartment of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, NY, USA.
Michele PatoDepartment of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, NY, USA.
Danish SaleheenDepartment of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-6193-020X
Patrick F SullivanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jessica AlföldiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9713-6200
Paul Cannon23andMe, Inc., Sunnyvale, CA, USA.
Daniel G MacArthurProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.ORCID http://orcid.org/0000-0002-5771-2290
Broad Institute · US23andMe (United States) · USState University of New York · USHarvard University · USHelsinki University Hospital · FILund University · SEUniversity of Eastern Finland · FIUniversity of Helsinki · FIMichael J. Fox Foundation · USBoston University · USBrigham and Women's Hospital · USImperial College Healthcare NHS Trust · GBNational University of Singapore · SGTampere University · FIUniversity of Leicester · GBUniversity of North Carolina at Chapel Hill · USCedars-Sinai Medical Center · USCleveland Clinic · USColorado School of Public Health · USColumbia University Irving Medical Center · US
Funding
African Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MGenomic Psychiatry CohortR01MH085548 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI PATO, CARLOS N, PATO, MICHELE T · 2008 to 2012
$16.3MComputational resources for genomic interpretation of type 2 diabetesU54DK105566 · NIDDK · BROAD INSTITUTE, INC. · PI MACARTHUR, DANIEL G, NEALE, BENJAMIN MICHAEL · 2014 to 2017
$8.6MLatino Ancestry Genomic Psychiatry CohortR01MH123451 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2020 to 2025
$7.1MAnnotation and interpretation of loss-of-function polymorphisms in human genomesR01GM104371 · NIGMS · MASSACHUSETTS GENERAL HOSPITAL · PI MACARTHUR, DANIEL G · 2013 to 2016
$1.3MThe Human Knockout Project: systematic discovery of loss-of-function variants in humansF32GM115208 · NIGMS · MASSACHUSETTS GENERAL HOSPITAL · PI KARCZEWSKI, KONRAD · 2015 to 2016
$109kBritish Heart Foundation CS/14/2/30841British Heart Foundation RG/18/10/33842Department of HealthMedical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MC_UP_1102/20NIDDK NIH HHS U54 DK105566NIGMS NIH HHS F32 GM115208NIGMS NIH HHS R01 GM104371NIMH NIH HHS R01 MH085548NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH123451Wellcome TrustWellcome Trust 107469/Z/15/Z
Abstract
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibitors targeting these genes
Indexed as
AdultAgedAged, 80 and overBiological Specimen BanksCell LineEmbryonic Stem CellsFemaleGain of Function MutationHeterozygoteHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LongevityLoss of Function MutationLymphocytesMaleMiddle AgedLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, human
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.